Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.A131V
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CLCNKB

NM_000085.5:p.A131V

Associated Papers

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219

Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia.

Yang M et al.

Nature Communications, 2019

30944321 (PubMed )
Supplement: 41467_2019_9469_MOESM5_ESM.xlsx › ST2
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